Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency

Hanny Al-Samkari¹, Rachael F Grace², Andreas Glenthøj³, Oliver Andres⁴, Wilma Barcellini⁵, Frédéric Galactéros⁶, Kevin H M Kuo⁷, D Mark Layton⁸, Marta Morado Arias⁹, Vip Viprakasit¹⁰, Yan Dong¹¹, Feng Tai¹¹, Peter Hawkins¹¹, Sarah Gheuens¹¹, Jaime Morales-Arias¹¹, Keely S Gilroy¹¹, John B Porter¹², Eduard J van Beers¹³

Affiliations

¹ Division of Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
² Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.
³ Department of Haematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
⁴ Department of Paediatrics, University of Würzburg, Würzburg, Germany.
⁵ Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
⁶ Unité des Maladies Génétiques du Globule Rouge, CHU Henri Mondor, Créteil, France.
⁷ Division of Hematology, University of Toronto, Toronto, Ontario, Canada.
⁸ Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK.
⁹ Hematology Department, Hospital Universitario La Paz, Madrid, Spain.
¹⁰ Siriraj-Thalassemia Center, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
¹¹ Agios Pharmaceuticals, Inc., Cambridge, Massachusetts, USA.
¹² Haematology Department, University College London Hospitals, London, UK.
¹³ Benign Hematology Center, Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.

PMID: 36594181
DOI: 10.1002/ajh.26830

Free article

Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency

Hanny Al-Samkari et al. Am J Hematol. 2023 Mar.

Free article

. 2023 Mar;98(3):E57-E60.

doi: 10.1002/ajh.26830. Epub 2023 Jan 9.

Authors

Affiliations

¹ Division of Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
² Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.
³ Department of Haematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
⁴ Department of Paediatrics, University of Würzburg, Würzburg, Germany.
⁵ Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
⁶ Unité des Maladies Génétiques du Globule Rouge, CHU Henri Mondor, Créteil, France.
⁷ Division of Hematology, University of Toronto, Toronto, Ontario, Canada.
⁸ Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK.
⁹ Hematology Department, Hospital Universitario La Paz, Madrid, Spain.
¹⁰ Siriraj-Thalassemia Center, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
¹¹ Agios Pharmaceuticals, Inc., Cambridge, Massachusetts, USA.
¹² Haematology Department, University College London Hospitals, London, UK.
¹³ Benign Hematology Center, Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.

PMID: 36594181
DOI: 10.1002/ajh.26830

No abstract available

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References

REFERENCES

1. Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from the pyruvate kinase deficiency natural history study. Blood. 2018;131(20):2183-2192. doi:10.1182/blood-2017-10-810796
1. Boscoe AN, Yan Y, Hedgeman E, et al. Comorbidities and complications in adults with pyruvate kinase deficiency. Eur J Haematol. 2021;106(4):484-492. doi:10.1111/ejh.13572
1. Rossi F, Perrotta S, Bellini G, et al. Iron overload causes osteoporosis in thalassemia major patients through interaction with transient receptor potential vanilloid type 1 (TRPV1) channels. Haematologica. 2014;99(12):1876-1884. doi:10.3324/haematol.2014.104463
1. Vogiatzi MG, Macklin EA, Fung EB, et al. Bone disease in thalassemia: a frequent and still unresolved problem. J Bone Miner Res. 2009;24(3):543-557. doi:10.1359/jbmr.080505
1. Sarrai M, Duroseau H, D'Augustine J, Moktan S, Bellevue R. Bone mass density in adults with sickle cell disease. Br J Haematol. 2007;136(4):666-672. doi:10.1111/j.1365-2141.2006.06487.x

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Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency

Affiliations

Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency

Authors

Affiliations

References

REFERENCES

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MeSH terms

Substances

Supplementary concepts

Associated data

LinkOut - more resources

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Medical